Canonical Allele Identifier: CA278627472
Gene: ABCC6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16157677_16157724del , CM000678.2:g.16157677_16157724del GRCh38
NC_000016.9:g.16251534_16251581del , CM000678.1:g.16251534_16251581del GRCh37
NC_000016.8:g.16159035_16159082del NCBI36
NG_007558.2:g.70750_70797del
NG_007558.3:g.70896_70943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3823_3870del ENSP00000483331.2:p.Arg1275_His1290del
ENST00000205557.12:c.3823_3870del MANE Select ENSP00000205557.7:p.Arg1275_His1290del
ENST00000640696.1:c.637_684del ENSP00000492197.1:p.Arg213_His228del
ENST00000205557.11:c.3823_3870del ENSP00000205557.7:p.Arg1275_His1290del
ENST00000456970.6:c.3448_3495del ENSP00000405002.2:n.3448_3495del
ENST00000622290.4:c.*1032_*1079del ENSP00000483331.1:n.*1032_*1079del
NM_001171.5:c.3823_3870del NP_001162.4:p.Arg1275_His1290del
XM_011522479.1:c.3790_3837del XP_011520781.1:p.Arg1264_His1279del
XM_011522480.1:c.3481_3528del XP_011520782.1:p.Arg1161_His1176del
XM_011522481.1:c.3481_3528del XP_011520783.1:p.Arg1161_His1176del
XR_932836.1:n.4058_4105del
XR_932837.1:n.3859_3906del
XR_932838.1:n.3859_3906del
XR_933134.1:n.539-2104_539-2057del
NM_001351800.1:c.3481_3528del NP_001338729.1:p.Arg1161_His1176del
NR_147784.1:n.3485_3532del
XM_011522479.2:c.3790_3837del XP_011520781.1:p.Arg1264_His1279del
XM_011522481.3:c.3481_3528del XP_011520783.1:p.Arg1161_His1176del
XM_017023212.1:c.3655_3702del XP_016878701.1:p.Arg1219_His1234del
XM_024450261.1:c.3859_3906del XP_024306029.1:p.Arg1287_His1302del
XR_932836.2:n.4004_4051del
XR_932837.3:n.3804_3851del
XR_932838.3:n.3804_3851del
NM_001171.6:c.3823_3870del MANE Select NP_001162.5:p.Arg1275_His1290del
Search 100 bp 5'
Search 100 bp 3'